G22* (p.Gly22Ter) variant of LAMP2 (P13473)

Name: LAMP2 G22* (p.Gly22Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

G22* (p.Gly22Ter) in LAMP2 (P13473) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.

G22* (p.Gly22Ter) variant details

p.Gly22Ter
rs2147294800
ClinGen CA414397805
ClinVar RCV001783550
Ensembl rs2147294800
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)
Cited in: Danon Disease. (PMID 32134616)